Variant position: 500 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1164 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AAISRE----LSEITTAEAEPVVP RGGFDSPFYRDSLPGSQRKTH
Mouse AAISKE----LSEITTAEADPVVP RGGFDSPFYRDSLSGSQ
Rat AAISKE----LSEITTAEADPVAP RGGFDSPFYRDSLSGSQ
Fission yeast ELTDKSRWTRLDSIAVVALCNSLN AVGIAESVM-DPFGGKL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1164 Hamartin
403 – 787 Mediates interaction with WDR45B
487 – 487 Phosphoserine
505 – 505 Phosphoserine
511 – 511 Phosphoserine
Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
Hass J.; Mayer K.; Rott H.-D.;
Hum. Mutat. 16:88-88(2000)
Cited for: VARIANT TSC1 GLN-500;
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